C591T-F2

**Figure 1\. Pedigree diagram for family C591T\-F2\.**

![](/media/202606/20260626174315637868.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 591 | m.591C\>T | C591T\-F2 | The Netherlands | Gitelman\-Like Syndrome | 1 | 7 | 2022 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) |  |

The **m.591C\>T** variant in MT\-TF was reported in family C591T\-F2 from The Netherlands with gitelman\-like syndrome. The pedigree record reported 1 unaffected and 7 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was tubulopathy.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-II6 | Fam | F | N | Y | A | ND | 98% | / | / | / | Tubulopathy |  |
| 2 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-III1 | Fam | F | N | Y | A | 5 | 73% | / | / | / | Tubulopathy |  |
| 3 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-III2 | Fam | M | N | Y | A | 10 | 55% | / | / | / | Tubulopathy |  |
| 4 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-III4 | Fam | M | Y | Y | A | 8 | 71% | / | / | / | Tubulopathy |  |
| 5 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-III5 | Fam | F | N | Y | A | ND | 99% | / | / | / | Tubulopathy |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).